Canonical Allele Identifier: CA162361406

Gene: TFPI2 GNGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93890140C>T , CM000669.2:g.93890140C>T	GRCh38
NC_000007.13:g.93519452C>T , CM000669.1:g.93519452C>T	GRCh37
NC_000007.12:g.93357388C>T	NCBI36
NG_032914.1:g.5852G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006528.4:c.268G>A (TFPI2) MANE Select	NP_006519.1:p.Glu90Lys
ENST00000222543.11:c.268G>A (TFPI2) MANE Select	ENSP00000222543.5:p.Glu90Lys
NM_001271003.1:c.235G>A (TFPI2)	NP_001257932.1:p.Glu79Lys
NM_001271003.2:c.235G>A (TFPI2)	NP_001257932.1:p.Glu79Lys
NM_001271004.1:c.268G>A (TFPI2)	NP_001257933.1:p.Glu90Lys
NM_001271004.2:c.268G>A (TFPI2)	NP_001257933.1:p.Glu90Lys
NM_006528.3:c.268G>A (TFPI2)	NP_006519.1:p.Glu90Lys
ENST00000222543.9:c.268G>A (TFPI2)	ENSP00000222543.5:p.Glu90Lys
ENST00000451238.1:c.31G>A (TFPI2)	ENSP00000416370.1:p.Glu11Lys
ENST00000455502.5:c.-12+3591C>T (GNGT1)	ENSP00000395857.1:n.-12+3591C>T
ENST00000461482.1:n.343G>A (TFPI2)
ENST00000647793.1:c.268G>A (TFPI2)	ENSP00000497090.1:p.Glu90Lys
ENST00000649913.1:c.235G>A (TFPI2)	ENSP00000497511.1:p.Glu79Lys
ENST00000650573.1:c.268G>A (TFPI2)	ENSP00000497131.1:p.Glu90Lys